title: Association of beta-defensin 1 single nucleotide polymorphisms with Crohn's disease.
abstract: OBJECTIVE
  It has been suggested that deficient defensin expression is associated with the chronic inflammation of Crohn's disease. The regional localization of Crohn's disease, ileal or colonic disease can be linked to different defensin profiles. As constitutive beta-defensin 1 has a colonic expression, we considered it of interest to investigate single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) in Crohn's disease.
  
  
  METHODS
  Three SNPs of the DEFB1 gene, DEFB1 G-20A (rs11362), DEFB1 C-44G (rs1800972) and DEFB1 G-52A (rs1799946), were genotyped either by Custom TaqMan SNP genotyping assays or by restriction fragment length polymorphisms (RFLP) in 190 patients with Crohn's disease and 95 Hungarian controls.
  
  
  RESULTS
  It was found that the G-20A and C-44G SNPs had a strong association with the colonic and ileocolonic localizations of the disease, respectively, but no association was detected for the ileal localization. A significantly higher frequency of the GA genotype of G-20A was observed among patients with colonic localization (60%) as compared with healthy controls (39%), with an odds ratio (OR) of 2.39. The GG genotype of C-44G SNP, which is regarded as a protective genotype, was much less frequent (4%) among patients than among controls (12%), OR 3.367.
  
  
  CONCLUSIONS
  These results indicate that genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization.
authors.affiliation: Department of Medical Microbiology and Immunobiology, University of Szeged, Szeged, Hungary.
authors.forename: Agnes Katalin
authors.initials: AK
authors.lastname: Kocsis
authors.forename: Peter Laszló
authors.initials: PL
authors.lastname: Lakatos
authors.forename: Ferenc
authors.initials: F
authors.lastname: Somogyvári
authors.forename: Peter
authors.initials: P
authors.lastname: Fuszek
authors.forename: János
authors.initials: J
authors.lastname: Papp
authors.forename: Simon
authors.initials: S
authors.lastname: Fischer
authors.forename: Tamás
authors.initials: T
authors.lastname: Szamosi
authors.forename: Laszlo
authors.initials: L
authors.lastname: Lakatos
authors.forename: Agota
authors.initials: A
authors.lastname: Kovacs
authors.forename: Peter
authors.initials: P
authors.lastname: Hofner
authors.forename: Yvette
authors.initials: Y
authors.lastname: Mándi
mesh_terms: D000328:Adult; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D015810:Linkage Disequilibrium; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D023083:beta-Defensins / Q000235:genetics* / Q000378:metabolism
chemical_list: C406407:DEFB1 protein, human; D023083:beta-Defensins; D004247:DNA